FOXE3

forkhead box E3
OMIM: 601094, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green FOXE3 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Anterior segment dysgenesis 2, multiple subtypes 610256
Red FOXE3 in Pneumothorax - familial Level 2: Respiratory Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Green FOXE3 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cataract 34, multiple types, OMIM:612968 cataract 34 multiple types, MONDO:0013067 Peter's anomaly microphthalmia.
Green FOXE3 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Anterior segment mesenchymal dysgenesis 107250
Amber FOXE3 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH South West GLH London South GLH Phenotypes Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349
Red FOXE3 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Literature Phenotypes {Aortic aneurysm, familial thoracic 11, susceptibility to}
Green FOXE3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Cataract 34, multiple types, OMIM:612968 {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Green FOXE3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL PRIMARY APHAKIA 610256 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
Green FOXE3 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Ocular anterior segment dysgenesis, HP:0007700
Red FOXE3 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Aphakia, congenital primary, 610256
Red FOXE3 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Green FOXE3 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 Cataract 34, multiple types, OMIM:612968 Tags Q3_25_NHS_review Q3_25_MOI